Arthritis, and Full cheeks

Diseases related with Arthritis and Full cheeks

In the following list you will find some of the most common rare diseases related to Arthritis and Full cheeks that can help you solving undiagnosed cases.


Top matches:

Medium match RAMON SYNDROME


A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

Medium match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Medium match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

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Other less relevant matches:

Medium match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

Medium match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Medium match MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Medium match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Low match ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Low match CRISPONI/COLD-INDUCED SWEATING SYNDROME 3; CISS3


Crisponi/cold-induced sweating syndrome-3 is an autosomal recessive disorder characterized by infantile-onset hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, resulting in feeding and respiratory difficulties. Other features include joint contractures and camptodactyly. Death in infancy may occur, and those that survive may develop retinitis pigmentosa later in childhood. Individuals with some forms of Crisponi syndrome may develop paradoxical cold-induced sweating later in childhood, although this is a variable finding (summary by Angius et al., 2016).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Flexion contracture
  • High palate
  • Feeding difficulties
  • Depressed nasal bridge
  • Fever


SOURCES: OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 3; CISS3

Low match SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME


Related symptoms:

  • Brachydactyly
  • Midface retrusion
  • Osteoarthritis
  • Short thumb
  • Developmental stagnation


SOURCES: ORPHANET MENDELIAN

More info about SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Full cheeks

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Full cheeks. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Hoarse voice Abnormality of the ribs Joint hyperflexibility Micrognathia Delayed eruption of teeth Abnormality of the metaphysis Mandibular prognathia Respiratory insufficiency Conductive hearing impairment Growth delay Seizures Hypertension Failure to thrive Hearing impairment

Rare Symptoms - Less than 30% cases


Midface retrusion Abnormal heart morphology Pneumonia Kyphoscoliosis Intellectual disability Skeletal dysplasia Low-set, posteriorly rotated ears Joint stiffness Camptodactyly of finger Inguinal hernia Protuberant abdomen Renal tubular acidosis Bowing of the long bones Abnormality of epiphysis morphology Hypercalciuria Talipes equinovarus Arthralgia Abnormality of the dentition Cleft palate Gait disturbance Macrocephaly Prominent supraorbital ridges Short finger Joint swelling Feeding difficulties Widely spaced teeth Thickened skin Hypertelorism Long face Depressivity Pain Cryptorchidism Flexion contracture Depressed nasal bridge Anxiety Coarse facial features Nephrolithiasis Macrotia Hyperhidrosis Nephrocalcinosis Umbilical hernia Delayed puberty Cognitive impairment Neoplasm Anemia Hepatomegaly Proteinuria Strabismus Renal insufficiency Pectus excavatum Acidosis Hip dislocation Hematuria Genu valgum Metabolic acidosis Abnormal bleeding Abnormality of dental enamel Narrow palate Generalized hirsutism Diabetes mellitus Sensorineural hearing impairment Motor delay Muscular hypotonia Cataract Nystagmus Generalized hypotonia Long fingers Global developmental delay Anterior concavity of thoracic vertebrae Obtuse angle of mandible Ureteral obstruction Anisospondyly Abnormal cardiac septum morphology Abnormality of the pubic bone Visual impairment Behavioral abnormality Ventriculomegaly Reduced visual acuity Irritability Feeding difficulties in infancy Intellectual disability, moderate Aggressive behavior Neonatal hypotonia Deeply set eye EEG abnormality Thin upper lip vermilion Gastroesophageal reflux Glaucoma Respiratory tract infection Hydronephrosis Upslanted palpebral fissure Constipation Hyporeflexia Areflexia Thrombocytopenia Microphthalmia Long philtrum Narrow chest Blindness Frontal hirsutism Short distal phalanx of finger Hypoplastic facial bones Ectopic kidney Complete atrioventricular canal defect Craniofacial hyperostosis Small face Abnormal cortical bone morphology Melanocytic nevus Osteolytic defects of the phalanges of the hand Flared metaphysis Hypoplastic scapulae Misalignment of teeth Sclerosis of skull base Thoracic hypoplasia Cone-shaped epiphyses of the phalanges of the hand Short clavicles Short humerus Atrioventricular canal defect Tibial bowing Limited elbow extension Delayed cranial suture closure Coarse hair Tricuspid valve prolapse Pulmonic stenosis Mitral valve prolapse Facial asymmetry Megacystis Short thorax Nevus Vesicoureteral reflux Intestinal malrotation Growth hormone deficiency Tetralogy of Fallot Oligohydramnios Coxa valga Urethral atresia Pulmonary arterial hypertension Long neck Prune belly Renal hypoplasia Ureteral stenosis Recurrent otitis media Omphalocele Wide anterior fontanel Hypoplastic pelvis Joint contracture of the hand Protruding ear Benign neoplasm of the central nervous system Dense posterior cortical cataract Hypoammonemia Wrist swelling Lentiglobus Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Elevated serum acid phosphatase Alopecia Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Cheilitis Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Skeletal muscle atrophy Erythema Hyperphosphaturia Comedo Short thumb Brachydactyly Cold-induced sweating Camptodactyly Rod-cone dystrophy Respiratory distress Dysphagia Fever High palate Abnormal perifollicular morphology Sunken cheeks Folliculitis Scarring Follicular hyperkeratosis Abnormal eyebrow morphology Absent eyelashes Atopic dermatitis Aplasia/Hypoplasia of the skin Epiphora Spinal muscular atrophy Sparse eyebrow Inflammatory abnormality of the skin Ichthyosis Hypotrichosis Papule Buphthalmos Atelectasis Attention deficit hyperactivity disorder Open mouth Neoplasm of the skin Azoospermia Aminoaciduria Retrognathia Skin ulcer Clonus Stereotypy Amblyopia Dental crowding Hypoplasia of dental enamel Subcutaneous nodule Sparse scalp hair Reduced number of teeth Fine hair Dehydration Aciduria Increased serum lactate Recurrent fractures Everted lower lip vermilion Joint hypermobility Carious teeth Malabsorption Congenital cataract Platyspondyly Corneal opacity Hypercholesterolemia Deep philtrum Generalized hypopigmentation Pathologic fracture Renal tubular dysfunction Taurodontia Periodontitis Hyperaldosteronism Gingivitis Atypical scarring of skin Patellar dislocation Multiple renal cysts Osteomalacia Glomerulopathy Abnormal joint morphology Hyperparathyroidism Congenital glaucoma Hypokalemia Dysphasia Hypophosphatemia Open bite Diabetes insipidus Flat occiput Obsessive-compulsive behavior Hyponatremia Chronic otitis media Self-injurious behavior Glomerulonephritis Rickets Abnormality of the voice Pes planus Increased bone mineral density High forehead Chronic pancreatitis Synophrys Broad forehead Hypertrophic cardiomyopathy Fatigue Hypocitraturia Hepatocellular adenoma Doll-like facies Lipemia retinalis Distal renal tubular acidosis Chronic hepatitis Wide nose Hepatoblastoma Decreased glomerular filtration rate Intermittent diarrhea Xanthelasma Microalbuminuria Hypoglycemic seizures Pyelonephritis Enterocolitis Skeletal myopathy Fasting hypoglycemia Paresthesia Tapered finger Neoplasm of the liver Impotence Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Growth hormone excess Palpebral edema Spinal canal stenosis Generalized hyperpigmentation Large hands Macroglossia Acne Growth abnormality Sleep apnea Cerebral palsy Acanthosis nigricans Abnormality of the fingernails Tall stature Mitral regurgitation Thick lower lip vermilion Migraine Breathing dysregulation Xanthomatosis Pheochromocytoma Rheumatoid arthritis Diarrhea Myopathy Enlarged labia minora Axenfeld anomaly Angiokeratoma Abnormal anterior chamber morphology Gingival fibromatosis Juvenile rheumatoid arthritis Telangiectasia of the skin Osteolysis Osteoporosis Abnormality of retinal pigmentation Telangiectasia Decreased body weight Hypertrichosis Optic disc pallor Pigmentary retinopathy Abnormality of skin pigmentation Retinopathy Pallor Hyperkeratosis Recurrent infections Osteopenia Gout Venous thrombosis Enlarged kidney Hepatocellular carcinoma Hyperuricemia Prolonged bleeding time Decreased muscle mass Focal segmental glomerulosclerosis Portal hypertension Glomerulosclerosis Elevated alkaline phosphatase Chronic kidney disease Atherosclerosis Hypoglycemia Pancreatitis Hyperlipidemia Hypertriglyceridemia Epistaxis Hepatitis Nephropathy Hepatic failure Lactic acidosis Carcinoma Elevated hepatic transaminase Anterior hypopituitarism Long penis Proptosis Joint dislocation Ulnar deviation of finger Proximal placement of thumb Overfolded helix Elbow dislocation Hyperextensible skin Short long bone Disproportionate short-limb short stature Abnormality of the metacarpal bones Abnormality of the outer ear Short phalanx of finger Overweight Abnormal form of the vertebral bodies Blue sclerae Interphalangeal joint contracture of finger Limb undergrowth Cerebral calcification Hip dysplasia Micromelia Talipes Abnormality of the foot Arthrogryposis multiplex congenita Hip contracture Abnormality of the clavicle Obesity Cervical kyphosis Prominent forehead Atrial septal defect Abnormality of the skeletal system Hypertrophic auricular cartilage Cystic lesions of the pinnae Costal cartilage calcification Laryngotracheal stenosis Glabellar hemangioma Hypoplastic cervical vertebrae Hitchhiker thumb Ulnar deviation of the wrist Spinal cord compression Spinal deformities Neonatal short-limb short stature Flattened epiphysis Visceral angiomatosis Ulnar deviation of the hand Lethal skeletal dysplasia Irregular epiphyses Symphalangism affecting the phalanges of the hand Large earlobe Thoracic dysplasia Severe short stature Abnormality of cardiovascular system morphology Paraganglioma Congestive heart failure Abnormality of the cardiovascular system Otitis media Abnormality of the skin Prominent nose Urinary incontinence Hirsutism Pectus carinatum Postnatal growth retardation Hepatosplenomegaly Intellectual disability, mild Short neck Bowel incontinence Wide nasal bridge Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypersomnia Multiple joint contractures Abnormal heart valve morphology Intrauterine growth retardation Functional motor deficit Abnormal facial shape Ridged cranial sutures Abnormality of the Eustachian tube Abnormality of nasopharyngeal adenoids Restricted chest movement Incisional hernia Recurrent upper and lower respiratory tract infections Tonsillitis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Heparan sulfate excretion in urine Rhinitis Obstructive lung disease Thenar muscle atrophy Expressive language delay Flared nostrils Mucopolysacchariduria Wrist flexion contracture Thoracolumbar kyphosis Clubbing of fingers Abnormality of the skull Papilledema Developmental stagnation



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